Noncleft Craniofacial Anomalies

  1. Hemifacial Microsomia
    1. This is the second most common congenital anomaly of the head and neck after clefting. Hemifacial microsomia includes:
      1. Malformation of the external ear with varying degrees of microtia and/or other ear anomalies.
      2. Malformation of the mandible, with varying degrees of shortening or absence of the ramus of the mandible. Subsequent chin deviation and malocclusion will occur.
      3. Varying degrees of maxillary hypoplasia.
      4. Facial nerve weakness or absence in severe cases.
    2. Team management typically includes:
      1. Protection of hearing in the normal ear.
      2. Orthodontic management, combined with rib graft reconstruction or distraction osteogenesis of the ramus, at age 4 to 6 years.
      3. Ear reconstruction with otoplasty or rib cartilage, depending on the severity of the anomaly.
      4. Orthognathic surgery and additional orthodontic management after facial growth is complete.
  2. Craniosynostosis
    1. Craniosynostosis is early fusion of the sutures between the bones of the skull where growth naturally occurs, thus, precluding growth at the suture site.
    2. It can occur in isolation or as a part of several syndromes.
    3. Non-syndromal craniosynostosis is classified morphologically by the suture involved and subsequent skull shape.
      1. One or two sutures involved with different skull and upper face deformities depending on suture.
        1. Sagittal suture-scaphocephaly
        2. Unicoronal suture-plagiocephaly
        3. Metopic suture-trigonocephaly
        4. Bicoronal sutures-brachycephaly or turricephaly or both
      2. Increased intracranial pressure and developmental delay is rare.
      3. Correction usually requires one operation in infancy. Secondary surgery is uncommon.
    4. Syndromal craniosynostosis is classified according to the name of the syndrome.
      1. Turribrachycephalic skull shape is common.
      2. Five syndromes of which craniosynostosis is a part
        1. Crouzon syndrome
        2. Apert syndrome
        3. Carpenter syndrome
        4. Saethre-Chotzen syndrome
        5. Pfeiffer syndrome
      3. All are inherited in an autosomal dominant fashion, except Carpenter syndrome, which is recessive.
      4. Syndactyly of the hands and feet is part of Apert, Carpenter, and Pfeiffer syndromes.
      5. Increased intracranial pressure and developmental delay are more common than in non-syndromal craniosynostosis, but are not universal.
      6. Multiple operations throughout life are usually required to treat these patients.
  3. Other Craniofacial Anomalies
    1. Orbital hypertelorism
      1. Orbits laterally displaced making the eyes appear too far apart.
      2. Caused by nasofrontal dysplasia, encephalocele, tumor, or complex craniofacial clefts.
      3. Can be corrected with surgery.
    2. Treacher-Collins Syndrome
      1. Autosomal dominant.
      2. Includes varying degrees of zygomatic hypoplasia, lower eyelid coloboma, mandibular hypoplasia, and microtia.
      3. Multiple surgeries throughout life required to treat.
    3. Craniofacial clefts
      1. Clefting can occur in the upper face and forehead, as it does in the lip and palate, and can involve all anatomic layers including bone.
      2. These clefts are very rare, may be very deforming, and may require multiple surgeries to treat.

Core Curriculum for Cleft Palate and Other Craniofacial Anomalies

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